rs121918521

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs121918521(C;T)

Make rs121918521(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

40597269

Gene

ATP6AP2

is a	snp
is	mentioned by
dbSNP	rs121918521
dbSNP (classic)	rs121918521
ClinGen	rs121918521
ebi	rs121918521
HLI	rs121918521
Exac	rs121918521
Gnomad	rs121918521
Varsome	rs121918521
LitVar	rs121918521
Map	rs121918521
PheGenI	rs121918521
Biobank	rs121918521
1000 genomes	rs121918521
hgdp	rs121918521
ensembl	rs121918521
geneview	rs121918521
scholar	rs121918521
google	rs121918521
pharmgkb	rs121918521
gwascentral	rs121918521
openSNP	rs121918521
23andMe	rs121918521
SNPshot	rs121918521
SNPdbe	rs121918521
MSV3d	rs121918521
GWAS Ctlg	rs121918521

Max Magnitude

0

OMIM	300556
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121918521(T;T)
Alt	rs121918521(T;T)
Reference	Rs121918521(C;C)
Significance	Pathogenic
Disease	Mental retardation
Variation	info
Gene	ATP6AP2
CLNDBN	Mental retardation, X-linked, syndromic, Hedera type
Reversed	0
HGVS	NC_000023.10:g.40456521C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011548.6,